ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1158G>A (p.Ser386=)

gnomAD frequency: 0.00009  dbSNP: rs377446096
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653797 SCV000775687 likely benign Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-11-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493052 SCV002781882 uncertain significance Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome 2022-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004686599 SCV005175183 likely benign Inborn genetic diseases 2024-05-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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